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Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma.

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第一作者: Jianxin,Shi
第一单位: 1] Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA. [2].
作者单位: 1] Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA. [2]. [1] Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA. [2] Department of Dermatology, Maurizio Bufalini Hospital, Cesena, Italy. [3] Department of Dermatology, University of L'Aquila, L'Aquila, Italy. [4] 1] Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. [2] Genetics of Rare Hereditary Cancers, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy. [5] Service de Génétique, Gustave Roussy, Villejuif, France. [6] 1] Department of Dermatology, Instituto Valenciano de Oncología, Valencia, Spain. [2] Department of Dermatology, Universidad Católica de Valencia, Valencia, Spain. [7] Université Paris Descartes, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Cochin, Paris, France. [8] 1] Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland, USA. [2] Cancer Genomics Research Laboratory, NCI-Frederick, SAIC-Frederick, Inc., Frederick, Maryland, USA. [9] Genetics of Rare Hereditary Cancers, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) San Martino-IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy. [10] Department of Dermatology, Hospital General Universitario de Alicante, Alicante, Spain. [11] Laboratory of Molecular Biology, Instituto Valenciano de Oncología, Valencia, Spain. [12] 1] INSERM, UMR 946, Genetic Variation and Human Diseases Unit, Paris, France. [2] Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie, Paris, France. [13] 1] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [14] SAS Quantome, Paris, France. [15] Laboratory of Molecular Gerontology, National Institute on Aging, US National Institutes of Health, US Department of Health and Human Services, Baltimore, Maryland, USA. [16] Section of Medical Sciences, School of Molecular Biosciences, Washington State University, Spokane, Washington, USA. [17] Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy. [18] SAIC-Frederick, Inc., Frederick National Laboratory for Cancer Research, Simulation, Analysis and Mathematical Modeling Group, Advanced Biomedical Computing Center, Frederick, Maryland, USA. [19] 1] Service de Génétique, Gustave Roussy, Villejuif, France. [2] Université Paris-Sud, Kremlin Bicêtre France, Gustave Roussy, Villejuif, France. [20] 1] McGill University and Génome Québec Innovation Centre, Montreal, Quebec, Canada. [2] Department of Human Genetics, McGill University, Montreal, Quebec, Canada. [3] Fondation Jean Dausset-Centre d'Etude du Polymorphisme Humain (CEPH), Paris, France. [21] Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy. [22]
DOI 10.1038/ng.2941
PMID 24686846
发布时间 2025-05-29
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